Literature DB >> 4462981

Familial x/x translocation: t(x;x)(p22;q13)

H J Kim, L Y Hsu, K Hirschhorn.   

Abstract

Mesh:

Year:  1974        PMID: 4462981     DOI: 10.1159/000130299

Source DB:  PubMed          Journal:  Cytogenet Cell Genet        ISSN: 0301-0171


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  17 in total

1.  BrdU-33258 Hoechst analysis of DNA replication in human lymphocytes with supernumerary or structurally abnormal X chromosomes.

Authors:  S A Latt; H F Willard; P S Gerald
Journal:  Chromosoma       Date:  1976-08-17       Impact factor: 4.316

2.  A girl with mosaicism for a dicentric X chromosome (45,X/46,X,dic(X) (Xqter to p22::p22 to qter)).

Authors:  J F Mattei; H Taramasco; M G Mattei; C Lucas; L Aubert; F Giraud
Journal:  Hum Genet       Date:  1977-08-31       Impact factor: 4.132

3.  A duplication/deficient X chromosome in a girl with mental retardation and dysmorphic features.

Authors:  I C Barnes; D Curtis; S L Duncan
Journal:  J Med Genet       Date:  1988-04       Impact factor: 6.318

4.  Fusion of two apparently intact human X chromosomes.

Authors:  A K Sinha; S Pathak; J J Nora
Journal:  Hum Genet       Date:  1976-06-29       Impact factor: 4.132

5.  A girl with an end-to-end fusion of two X'S.

Authors:  C Stoll; C Lausecker; A Pennerath
Journal:  Eur J Pediatr       Date:  1979-05-18       Impact factor: 3.183

6.  Partial trisomy 14 (q23 leads to qter) via segregation of a 14/X translocation.

Authors:  M M Cohen; J Charrow; N E Balkin; C J Harris
Journal:  Am J Hum Genet       Date:  1983-07       Impact factor: 11.025

7.  Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation.

Authors:  P Steinbach; W Horstmann; W Scholz
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

8.  Partial Turner's syndrome in four girls with Xq duplication and Xp deficiency.

Authors:  L B Nielsen; K Boczkowski; M Mikkelsen; G Dahl; E Andersen
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

9.  Women heterozygous for deficiency of the (p21 leads to pter) region of the X chromosome are fertile.

Authors:  M Fraccaro; P Maraschio; F Pasquali; S Scappaticci
Journal:  Hum Genet       Date:  1977-12-23       Impact factor: 4.132

10.  Structure and Barr body formation of an Xp + chromosome with two inactivation centers.

Authors:  R F Daly; K Patau; E Therman; G E Sarto
Journal:  Am J Hum Genet       Date:  1977-01       Impact factor: 11.025

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